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EHJ：心血管危险与LDLR多态性间的关系

2012-04-14 蒋鸿鑫（译） 医学论坛网

低密度脂蛋白基因受体高胆固醇血症心血管危险LDLR基因变异
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　　过量的低密度脂蛋白受体（LDLR）基因突变是导致家族性高胆固醇血症（FH）临床表型的根本原因。但鉴别致病性突变与非致病性突变对FH的诊断非常重要。与非功能性变异相比，真正的致病性突变是否确实与冠状动脉疾病（CAD）的发生有关，荷兰科学家对此进行了评估。非功能变异应该与CAD的发生没有关系。 　　研究纳入29365名受试者，检测了64种最常见的LDLR 变异。科学家首先确定每一种序列

　　过量的低密度脂蛋白受体（LDLR）基因突变是导致家族性高胆固醇血症（FH）临床表型的根本原因。但鉴别致病性突变与非致病性突变对FH的诊断非常重要。与非功能性变异相比，真正的致病性突变是否确实与冠状动脉疾病（CAD）的发生有关，荷兰科学家对此进行了评估。非功能变异应该与CAD的发生没有关系。

　　研究纳入29365名受试者，检测了64种最常见的LDLR 变异。科学家首先确定每一种序列变异的致病性。 然后，采用考克斯（Cox）比例风险模型比较LDLR突变携带者与非携带者的无事件生存期，无事件生存期是指从出生至首次出现 CAD事件的间隔时间。LDLR基因的54种序列变异归为致病性，10种为非致病。9912例致病性LDLR突变携带者的无事件生存期相较于18393名没有携带致病性LDLR突变的亲属短；风险比为3.64 (P<0.001)。相反，355 例非致病性LDLR变异携带者的无事件生存期与705名未携带变异亲属的无事件生存期相似；风险比为1.00（P=0.999）。

　　研究者认为， 关于临床转归的这些研究结果证实了他们关于LDLR序列变异的功能性标准。他们还证实了与FH相关的CAD发病危险，并强调可应用这些标准来决定在级联筛查中是否应该应用一个特定的序列变异。

       注：该研究于近期在线发表于《欧洲心脏杂志》（Eur Heart J ）。

       研究链接：Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants     

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    2012-09-23 hittouch

    #LDLR#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1956521, encodeId=8e411956521d2, content=<a href='/topic/show?id=4e8e10e672e' target=_blank style='color:#2F92EE;'>#LDLR#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10767, encryptionId=4e8e10e672e, topicName=LDLR)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=dc4b2500077, createdName=hittouch, createdTime=Sun Sep 23 21:31:00 CST 2012, time=2012-09-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1422501, encodeId=d075142250101, content=<a href='/topic/show?id=58b810e5814' target=_blank style='color:#2F92EE;'>#LDL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10758, encryptionId=58b810e5814, topicName=LDL)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=382c3719677, createdName=zhwj, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629178, encodeId=babf16291e8da, content=<a href='/topic/show?id=0c1c4325170' target=_blank style='color:#2F92EE;'>#多态性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=22, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=43251, encryptionId=0c1c4325170, topicName=多态性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d83c21331263, createdName=xzw120, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629730, encodeId=a61e1629e3033, content=<a href='/topic/show?id=28c351e80dc' target=_blank style='color:#2F92EE;'>#心血管危险#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=51780, encryptionId=28c351e80dc, topicName=心血管危险)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3e0221357465, createdName=lingaifan, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=)]
    2012-04-15 zhwj

    #LDL#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1956521, encodeId=8e411956521d2, content=<a href='/topic/show?id=4e8e10e672e' target=_blank style='color:#2F92EE;'>#LDLR#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10767, encryptionId=4e8e10e672e, topicName=LDLR)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=dc4b2500077, createdName=hittouch, createdTime=Sun Sep 23 21:31:00 CST 2012, time=2012-09-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1422501, encodeId=d075142250101, content=<a href='/topic/show?id=58b810e5814' target=_blank style='color:#2F92EE;'>#LDL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10758, encryptionId=58b810e5814, topicName=LDL)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=382c3719677, createdName=zhwj, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629178, encodeId=babf16291e8da, content=<a href='/topic/show?id=0c1c4325170' target=_blank style='color:#2F92EE;'>#多态性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=22, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=43251, encryptionId=0c1c4325170, topicName=多态性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d83c21331263, createdName=xzw120, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629730, encodeId=a61e1629e3033, content=<a href='/topic/show?id=28c351e80dc' target=_blank style='color:#2F92EE;'>#心血管危险#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=51780, encryptionId=28c351e80dc, topicName=心血管危险)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3e0221357465, createdName=lingaifan, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=)]
    2012-04-15 xzw120

    #多态性#

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=1956521, encodeId=8e411956521d2, content=<a href='/topic/show?id=4e8e10e672e' target=_blank style='color:#2F92EE;'>#LDLR#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10767, encryptionId=4e8e10e672e, topicName=LDLR)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=dc4b2500077, createdName=hittouch, createdTime=Sun Sep 23 21:31:00 CST 2012, time=2012-09-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1422501, encodeId=d075142250101, content=<a href='/topic/show?id=58b810e5814' target=_blank style='color:#2F92EE;'>#LDL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10758, encryptionId=58b810e5814, topicName=LDL)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=382c3719677, createdName=zhwj, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629178, encodeId=babf16291e8da, content=<a href='/topic/show?id=0c1c4325170' target=_blank style='color:#2F92EE;'>#多态性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=22, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=43251, encryptionId=0c1c4325170, topicName=多态性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d83c21331263, createdName=xzw120, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629730, encodeId=a61e1629e3033, content=<a href='/topic/show?id=28c351e80dc' target=_blank style='color:#2F92EE;'>#心血管危险#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=51780, encryptionId=28c351e80dc, topicName=心血管危险)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3e0221357465, createdName=lingaifan, createdTime=Sun Apr 15 15:31:00 CST 2012, time=2012-04-15, status=1, ipAttribution=)]
    2012-04-15 lingaifan

    #心血管危险#

    0